ClinVar Miner

List of variants reported as uncertain significance for Diamond-Blackfan anemia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001022.4(RPS19):c.164C>T (p.Thr55Met) rs147508369 0.00039
NM_001029.5(RPS26):c.312G>A (p.Ala104=) rs145976784 0.00009
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406 0.00008
NM_001014.5(RPS10):c.261G>A (p.Pro87=) rs781484971 0.00008
NM_000969.5(RPL5):c.691G>A (p.Val231Ile) rs568863745 0.00006
NM_000996.4(RPL35A):c.34G>A (p.Ala12Thr) rs533670667 0.00006
NM_001022.4(RPS19):c.208G>A (p.Ala70Thr) rs782368794 0.00006
NM_002948.5(RPL15):c.458A>G (p.Lys153Arg) rs370700905 0.00005
NM_000969.5(RPL5):c.269T>C (p.Val90Ala) rs775952185 0.00003
NM_000969.5(RPL5):c.517A>G (p.Ile173Val) rs754245145 0.00003
NM_000969.5(RPL5):c.599T>C (p.Met200Thr) rs773325598 0.00003
NM_001014.5(RPS10):c.89C>T (p.Pro30Leu) rs755445102 0.00003
NM_001142285.2(RPS24):c.526G>A (p.Val176Met) rs558584969 0.00003
NM_000975.5(RPL11):c.452T>C (p.Ile151Thr) rs754966145 0.00002
NM_000969.5(RPL5):c.229G>A (p.Ala77Thr) rs752867126 0.00001
NM_000969.5(RPL5):c.235T>A (p.Tyr79Asn) rs1043234543 0.00001
NM_000969.5(RPL5):c.587G>A (p.Arg196Gln) rs771013653 0.00001
NM_000969.5(RPL5):c.625C>T (p.Arg209Cys) rs770095159 0.00001
NM_001011.4(RPS7):c.77C>T (p.Ala26Val) rs939123022 0.00001
NM_001022.4(RPS19):c.128A>G (p.Lys43Arg) rs1400674746 0.00001
NM_001029.5(RPS26):c.266G>A (p.Arg89His) rs764673368 0.00001
NM_033022.4(RPS24):c.91G>A (p.Gly31Arg) rs757084547 0.00001
NM_000969.5(RPL5):c.344T>C (p.Met115Thr) rs1687118423
NM_000975.5(RPL11):c.14A>G (p.Gln5Arg) rs775235867
NM_000975.5(RPL11):c.68A>G (p.Asn23Ser) rs2124429076
NM_000987.5(RPL26):c.377G>A (p.Arg126His) rs932068728
NM_000996.4(RPL35A):c.309+4A>T rs1270507770
NM_001011.4(RPS7):c.133A>G (p.Ile45Val) rs1661264441
NM_001011.4(RPS7):c.357-3del rs140914434
NM_001022.4(RPS19):c.245G>A (p.Arg82His) rs782814286
NM_001029.5(RPS26):c.181+6_181+7del rs746906342

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